Canonical Allele Identifier: CA2814427392

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422235dup , CM000681.2:g.41422235dup	GRCh38
NC_000019.9:g.41928140dup , CM000681.1:g.41928140dup	GRCh37
NC_000019.8:g.46619980dup	NCBI36
NG_013004.1:g.29447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.718dup MANE Select	ENSP00000269980.2:p.Ala240GlyfsTer4
ENST00000269980.6:c.718dup	ENSP00000269980.2:p.Ala240GlyfsTer4
ENST00000457836.6:c.652dup	ENSP00000416000.2:p.Ala218GlyfsTer4
ENST00000535632.5:n.347dup
ENST00000540732.3:c.820dup	ENSP00000443246.1:p.Ala274GlyfsTer4
ENST00000541315.1:c.618dup
ENST00000542943.5:c.631dup	ENSP00000440345.1:p.Ala211GlyfsTer4
ENST00000545787.1:n.346dup
ENST00000595085.5:c.718dup	ENSP00000471150.2:p.Ala240GlyfsTer4
NM_000709.3:c.718dup	NP_000700.1:p.Ala240GlyfsTer4
NM_001164783.1:c.718dup	NP_001158255.1:p.Ala240GlyfsTer4
NM_000709.4:c.718dup MANE Select	NP_000700.1:p.Ala240GlyfsTer4
NM_001164783.2:c.718dup	NP_001158255.1:p.Ala240GlyfsTer4